Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure
Sukanya Mitra, Trisha Ghosh, Arun Kumar Mishra…·Moulinath Acharya
This study investigates a novel truncating Desmin mutation, Arg150Stop, showing it causes persistent aggregate-like structures that disrupt cellular homeostasis and cytoskeletal integrity through a toxic gain-of-function mechanism.